LSR (Lipolysis Stimulated Lipoprotein Receptor)
Gene encoding the lipolysis stimulated lipoprotein receptor, involved in lipid metabolism and cell adhesion.
Gene Information Card
| Symbol | LSR |
|---|---|
| Full Name | Lipolysis Stimulated Lipoprotein Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 51599 ncbi.nlm.nih.gov/gene/51599 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q86X29 |
| OMIM ID | 616164 |
| HGNC ID | 29582 |
| Aliases | LISCH7, ILDR3, LSR1 |
Description
The LSR gene encodes the lipolysis stimulated lipoprotein receptor, a transmembrane protein that acts as a receptor for chylomicron remnants and low-density lipoproteins (LDL) in the liver. It plays a critical role in lipid clearance from the bloodstream and is also involved in cell adhesion through its interaction with the tricellular tight junction complex. Mutations in LSR are associated with altered lipid metabolism and may contribute to hyperlipidemia and atherosclerosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperlipidemia | Impaired clearance of chylomicron remnants due to LSR dysfunction | PMID: 23395172 |
| Atherosclerosis | Accumulation of lipoproteins in vessel walls secondary to defective LSR-mediated uptake | PMID: 23395172 |
| Obesity | Altered lipid storage and metabolism linked to LSR expression changes | PMID: 25635004 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.5 | High |
| Adipose tissue | 12.3 | Medium |
| Small intestine | 8.7 | Medium |
| Kidney | 6.1 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 32.1 | Hepatocellular carcinoma cell line |
| Huh7 | 29.8 | Hepatoma cell line |
| 3T3-L1 | 15.4 | Adipocyte precursor cell line |
| Caco-2 | 11.2 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Cys) | Missense | 0.001% | Reduced receptor activity |
| c.455G>A (p.Arg152Gln) | Missense | 0.002% | Altered ligand binding |
| c.788delC (p.Pro263fs) | Frameshift | 0.0005% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein impair receptor-mediated endocytosis of lipoproteins.
Gain of Function (GOF)
Not reported for LSR.
Dominant Negative (DN)
Not reported for LSR.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Plasma lipoprotein clearance (Reactome: R-HSA-8963898)
• Tricellular tight junction assembly (Reactome: R-HSA-420029)
Protein Summary
The LSR protein is a single-pass type I membrane receptor of 649 amino acids. It contains an extracellular domain that binds lipoproteins, a transmembrane domain, and a cytoplasmic tail involved in internalization. The protein localizes to the plasma membrane and is highly expressed in liver and adipose tissue. It mediates the clearance of chylomicron remnants and LDL from circulation, and also contributes to the formation of tricellular tight junctions, thereby regulating paracellular permeability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LSR Knockout HEK293 Cell Line | EDJ-KQ10460 | Human | 51599 | Details Get a Quote |
| LSR Knockout A-549 Cell Line | EDJ-KQ39163 | Human | 51599 | Details Get a Quote |
| LSR Knockout HCT 116 Cell Line | EDJ-KQ39164 | Human | 51599 | Details Get a Quote |
| LSR Knockout HeLa Cell Line | EDJ-KQ39165 | Human | 51599 | Details Get a Quote |
